Jump to content

Nuchal Translucency (NT) Scan + Blood Test
Needs some sharing


  • Please log in to reply
21 replies to this topic

#1 Mum2TwoDSs

Posted 17 April 2012 - 10:12 AM

Hi all, I just had my NT scan @ 13 weeks. The combined result (scan + blood test @10 weeks) concluded that I have almost 1% (1 out of 95 chance) of having a down syndrome baby. The following are my results :

NT (scan) shows baby's fluid at 3.1mm max (normal is 1-3mm)
Blood test shows beta HCG at 2.11 (normal 1)
Blood test shows protein A at 0.96 (normal 1)
My maternal age is 38.

Though tthe results are not appalling, I am really anxious. I am not ready to have a down syndrome baby. We have tried so harrd to conceive this baby.

Is there anyone here who has similar experience/situation?

what are your results like?

Did you opt to do CVS or amniocentesis (diagnostic tests) after your NT test/scan?

How long did the amnio result take to come back?

What was the outcome?

I have at least two friends who had this sort of false alarm and I am hoping mine is as well. I understand that this combined NT screening test is not100% but it is horrible to be subject to worries. I have to wait another 2 weeks for an amnio and then wait for results.

Thanks.!

#2 Bluenomi

Posted 17 April 2012 - 10:22 AM

1 in 95 isn't idea but is far from a bad result. I know people who have gotten 1 in 2 and have had a perfectly healthly baby.

Aminos have a 1 in 100 chance of causing a miscarriage so you need to weigh up if that 1 in 95 chance is enough to risk a 1 in 100 miscarriage.

#3 Mayanme+1

Posted 17 April 2012 - 10:25 AM

Sorry you're having to go through this.

I had an amnio done when I was 38 but can't remember my numbers to compare to yours, sorry.  Don't know about CVS.

But if you choose the amnio and have it done at a private clininc you can pay for an express result which is back in about 72hrs I think.  It was an expensive option but I thought it was all worth it for the peace of mind.

Do you have a counsellor at the hospital to speak to?



#4 Mayanme+1

Posted 17 April 2012 - 10:29 AM

QUOTE (Bluenomi @ 17/04/2012, 10:22 AM) <{POST_SNAPBACK}>
Aminos have a 1 in 100 chance of causing a miscarriage so you need to weigh up if that 1 in 95 chance is enough to risk a 1 in 100 miscarriage.


My research at the time indicated that a lot of that 1 in 100 chance is actually operator error, which is why we opted for the private clinic rather than doing it through the public system.

#5 Mum2TwoDSs

Posted 17 April 2012 - 10:54 AM

Thanks ladies!

I didnt speak much with the counsellor cos well,  i know she wouldnt be empathetic in anyway...she was just passing the information to  me and could not offer anything else. I am sure she is pretty much immune to all this since she probably calls patients every day to tell them such things.

She told me CVS is done about 13 weeks and miscarriage rate is 1:100.  Amnio is done at 15.5 weeks and the rate is 1:200.  We are going with the latter. DH did not want to do the amnio at first, just leave it but after weighing 1:95 for Down Sydrome and 1:200 for miscarriage, we decided we would. I dont think i can survive the rest of my pregnancy with this unknown at the back of my mind.

Thanks bluenoni for your post. The counsellor did say between 1:2 to 1:300, mine is sort of in between, but 1:95 was still freaking me out. I honestly wonder how they work out this risk ratio.

I will opt to get my results asap by paying more cos the waiting is killing me. Thanks for sharing that bit.

#6 spottydog

Posted 17 April 2012 - 12:59 PM

Hi there,

Do you have a private OB you could discuss these questions with or your FS from your IVf clinic?

I was 26 and got 1:152  chance of DS. My NF was fine though, it was just under one mm.

Since i had done IVF i contacted my IVF clinic who told me since i was going private to contact my private OB, to get some info from them. My OB was excellent, he told me what he thought i should do given my personal circumstances.

Did the person doing the scan see any other soft markers for DS? Nasal bone present?

Good luck with your decision, amnio in two weeks and then paying for quicker results could be the way to go.

Sorry you are going through this.

spotty.

#7 Mum2TwoDSs

Posted 17 April 2012 - 01:19 PM

Hi spottydog,

Everything  on the scan was fine and sonographer was pleased with the whole scan. Nasal bone is present. But at 13 weeks we cant tell much I read. Only concern was the nuchal fold was higher in normal range, she took down 3 measurements, 2.71, 2.89 and 3.09 and she put down the largest reading. Yes i will do the amnio and just learnt about this FISH or express results which I certainly will pay for.

#8 TeachmeMum

Posted 17 April 2012 - 01:20 PM

Op my nuchal results were almost identical to yours and I was given a 1:35 I think from memory.

I opted for an amnio (in reality I had no choice but thats a different story) the technician told me it was a 1:200 risk of miscarriage. He was very supportive and ran through the whole procedure with me before hand.

I waited 3 weeks for my results but I went through the public system back then. It came back all clear. I just had a big boofhead daughter on board original.gif

#9 Mum2TwoDSs

Posted 17 April 2012 - 02:39 PM

Thank you Sapere Aude. I am so touched by your post and so happy for you that your girl is fine. How old were you when you had your girl cos I am 38. I think the higher maternal age makes mine higher risk.

#10 MummyIHK

Posted 17 April 2012 - 02:53 PM

Hi,

I had a 1/264 risk and I found this stressful (and that is pretty much boderline), so I can sympathise with you.  

My results were as follows;
Skin Fold Measurement - 2.2mm
HCG - 1.6
Papp-A - .32

I had an amnio done and was given the alll clear, I opted for the FISH results which cost $150 and were back within 24 hours, 110% worth it for the peace of mind.

I found that researching the person who was undertaking the procedure and feeling confident in my decision helped immensly with the stress and tension leading up to and following the procedure.

Good Luck, you will be in my thoughts.

#11 Mum2TwoDSs

Posted 17 April 2012 - 04:48 PM

Thank you mummyHK. A few people mentioned about getting a skilled technician. So i checked with clinic they say it would be done by the director of the ultrasound clinic who is an OB/gynae specialised in US and prenatal diagnosis. That gave me some peace of mind that I will be in good hands. But I will ask again the day before my procedure.

#12 BronE

Posted 25 April 2012 - 09:25 AM

If you are going to have the amnio done in two weeks, there is only one thing that I suggest before that.. You say you are not ready to parent a child with Down Syndrome but have you had anything to do with Down Syndrome.. Within this 2 weeks whilst you are waiting, contact your local DS Association and get put in contact with a parent with a child with DS and see what it is really like.. You might be very surprised about what you see.

I was 38 when I had my last little boofer and at my 12 week scan got a result of 1:39.  We were not going to bother with the amnio because our bubby was wanted and that result would not have changed my mind.. We had it due to my OBG being concerned about some other things she saw.  We had the amnio and paid the extra for the FISH results and his results came back positive that he in fact had Down Syndrome.. Yes I will admit that I cried that day, but I have never cried a day since then over the fact that my little man has Down Syndrome.  He is 2 in a couple of weeks time and is the most beautiful little man..

In most ways he is the same as his other three brothers... he is grumpy, moody, happy, whingy and everything else that any child is.. Yes he has been a bit slower with learning to do things but that is about the only thing that makes him any different to his brothers.

I am more than happy to talk to you as well if you want and can probably put you onto a family near you.. We have a very big network and I know everyone of those families would be more than happy to see you.
I know the decision is a personal one for everyone and I don't look down on people who do choose to terminate, but get some knowledge first before you make that decision.  I guess the other main thing to think about is how you are going to feel if you do terminate.. You say this baby is really wanted.. Are you going to be ok??

Good luck with everything.. feel free to email me if you want to talk or ask anything.  I am an open book : )

#13 Leafprincess

Posted 25 April 2012 - 09:49 AM

My first baby RAF's story:

At the NT scan he was just showing us his bum for the first 15 minutes which we thought was cute.
Then the technician stopped giggling along with us.
There was an issue with his nuchal fold.
The technician got an OB/GYN with qualifications in genetics who was on site to come in.
She looked really serious, I got scared. She took us into the office and expressed her concerns that she suspected the baby had triplodiy (set of three instead of pairs of every chromosome)

The OB/GYn suggested we do a CVS right there and then because it was extremely rare to have a triplody baby at 12 weeks. I was in shock and DP helped guide me and we said yes.

I lay there staring at the ceiling, trying to use deep breathing to calm myself down. I was told not to do that and not to move. The needle was big, I was scared. DP held me hand tighter than you can imagine, he had tears in his eyes. I closed mine and thought of laying in the snow in Canada. I can't remember that it hurt, it felt more like pulling.

The results came back the next day with the bloods to confirm, my OB/GYN explained to me that it was definately triplodiy and that triplody babies are incompatible with life. What a way to describe it, our baby and life didn't match anymore. They suspected I would either miscarry on my own, give birth to a still born or give birth and the baby would suffer innumerable complications and die not long after birth.

DP who is catholic and I then were asked to make a decision, do we D&C or take one of the three other options. I went through a full range of emotions, crying, arguing with God, blaming myself for being a 'bad person' (even though I'm not) and this must be karma. It was the longest 48 hours of my life. I was exhausted.

DP and I agreed we couldn't put our baby through the pain of being born with numerous complications. DP said he couldn't watch me carry a baby and watch it die. We agreed D&C was the only was to go. The NT scan was on a Wednesday. The OB/GYN performed the surgery on the Satruday- he did this so my parents could be with me as they were interstate. He was a really good doctor.

I felt empty for a while,then got the stage of acceptance and that sometimes things like this happen for no reason. It is just life. About 6 months later I found out I was pregnant again, Tiger is what we referred tithe baby as, at the 8 weeks scan he didn't have a heart beat. Another D&C was performed, we had genetic testing done and he too had triplodiy.

With this baby, I will have to have CVS done at the NT scan,because to have one baby with triplody is rare, to have two even rarer.

CVS doesn't hurt, you just have to lay still,the decisions that may arise afterwards is what hurts.

#14 MrsWidget

Posted 25 April 2012 - 10:07 AM

I'm sorry you are in this position.

Just a comment about FISH results. Yes they come back quicker but please be aware that they only test for 3 common chromosomal abnormalities and the sex. You will need to wait for the full results (which take 1-2 weeks) for the all clear. In most instances an all clear FISH will also give good full results but not always.

#15 nel15

Posted 25 April 2012 - 10:09 AM

Just remember a Nuchal Fold is only testing for Down's Syndrome, what about all the other genetic defects??

#16 BronE

Posted 25 April 2012 - 11:29 AM

Yipfazel, I cannot even fathom how you must have felt going through all that.. my heart breaks for you.. everything crossed for you that this time you get the baby you deserve.

I was told that the FISH results actually bring back 7 of the most common abnormalities..

nel15, That's the thing, if we all panicked about genetic defects in our children, no one would ever fall pregnant.  As my Paed said to me "if you have to have a disability Down Syndrome is the one to have".. Alot of peoples ideas on what DS is like are very outdated.  That's why learning about it is such a vital thing to do before considering terminating one.

#17 Hoping4anAddition

Posted 25 April 2012 - 06:03 PM

I have to agree with BronE. Do some research before you have your test to see what you might be up against. I would never terminate a DS baby because I know they are such beautiful happy people who can lead great lives. It's obviously a personal decision but if you haven't worked with or dealt with a DS child or adult you probably don't have enough info I make an informed choice. Rather than amino why don't you get your ultrasound and bloods again first? There are many instances of errors for both, maybe a second will give you a lower more acceptable risk? I was told by an FS I likely had uterine cancer, instead of opting for surgery as suggested I requested another US and got the all clear. The amount of time doctors have been wrong in my life is astounding!I think that we get given too much information these days and it makes us Even more stressed! I know the more I knew about how my cycles were progressing or not the more worried I got. I'm getting my nt scan and bloods but the bloods are to keep my dr happy and the scan is so I can see bubs again and hear its heartbeat. I don't really want to know my odds. I know that once I have a number I will need even more info.Good luck with further testing and any results you get!

#18 tmem1815

Posted 25 April 2012 - 06:30 PM

The 1 in 95 risk factors in the blood test, the ultrasound and maternal age.
Amniocentesis and CVS sampling involve putting a needle thru the uterus. Even with the best operator there will always be a risk of miscarriage. which will be between 1 in 100 to 1 in 200.
Only you can decide which of those 2 odds scares you more (child with downs or miscarriage) as the odds of both are about the same (1%)

#19 wallofdodo

Posted 25 April 2012 - 06:59 PM

QUOTE (Mum2OneDS @ 17/04/2012, 10:54 AM) <{POST_SNAPBACK}>
Thanks ladies!

I didnt speak much with the counsellor cos well,  i know she wouldnt be empathetic in anyway...she was just passing the information to  me and could not offer anything else. I am sure she is pretty much immune to all this since she probably calls patients every day to tell them such things.


Hi, I found the genetic counsellors to be a great help. yes they do give the facts, but they re there to help you with the other stuff.

QUOTE (nel15 @ 25/04/2012, 10:09 AM) <{POST_SNAPBACK}>
Just remember a Nuchal Fold is only testing for Down's Syndrome, what about all the other genetic defects??


I am not sure what you are saying here. The screening is for the three main trisomies. Further testing is for a whole lot more.


Good luck with what you decide to do OP it is a tough time. make sure you know what you really want to do.


#20 whatnamenow

Posted 25 April 2012 - 07:12 PM

It also wont predict for every genetic abnormality.  You could get a clear result but still end up with a child with a genetic abnormality that hasnt been tested for.

#21 suline

Posted 25 April 2012 - 08:27 PM

QUOTE (nel15 @ 25/04/2012, 10:09 AM)
Just remember a Nuchal Fold is only testing for Down's Syndrome, what about all the other genetic defects??

No, it isn't JUST for Down's Syndrome.. It also covers:

Turner syndrome
Trisomy 13
Trisomy 18
Triploidy (as Yipfazel mentioned)
And other defects with normal chromosomes, but a thicker nuchal translucency is associated with other fetal defects and genetic syndromes. (such as some cardiac abnormalities).

Also it is not TESTING for these syndromes, it is a screening tool. You are only given a risk ratio, not an absolute yes or no result.

Edited by suline, 28 April 2012 - 01:01 PM.


#22 Mum2TwoDSs

Posted 02 May 2012 - 12:33 PM

Hi everyone,

I just want to thank each of you for your contributing posts that really helped me prepare for this amnio, about getting the FISH results and getting a really experienced doctor for the procedure.

We finally did our amnio yesterday at 15weeks3day, it was not really painful but really uncomfortable, like this worm digging into my guts and then pulling out...but the doctor was really good, his words made me feel like I was the bravest woman in the world. I had a little cry and came back resting lots.

Today we got our FISH results, meant to be tml but DH couldnt wait and called the lab. The technician somehow thought he was the doc and told him WE ARE ALL CLEAR for trisomy 13, 18 and 21. The genetic counsellor he spoke to thereafter also confirmed it. And we are having a baby boy!!! We are so over the moon, so happy to receive this result after two weeks of hell. I finally can enjoy my pregnancy!

Thanks so much again ladies!!!



2 user(s) are reading this topic

0 members, 2 guests, 0 anonymous users

 

Show us your DUPLO creations to win!

We love to see the cool creations kids build when they play with LEGO DUPLO. Enter and share a picture of your childs creation for a chance to WIN 1 of 10 LEGO DUPLO prize packs worth over $100 each.

Jammy, Hula Hoop, Rage: Reddit reveals most unusual baby names

A recent Reddit thread has revealed some of the more creative names in the world.

Woman awakens from coma, learns she gave birth

A US woman awakened this week from a four-month-long coma that doctors had feared would be permanent and learned that she had given birth to a baby boy, according to her family.

'Give us a break': mum sent shocking letter over Facebook baby pics

Posting a lot of baby photos doesn't make you a bad person. It may make your Facebook feed a little irritating, but it doesn't make you a bad person.

In defense of the dads who do so much

It's time to shift the focus off what dads aren’t doing and shine it on what they are.

The modern cloth nappies too cute to cover up

If you're only just joining the modern cloth nappy movement, or would like to spruce up your collection, we have to introduce you to Designer Bums.

How breastfeeding can affect your libido

When you’ve just had a baby, having sex isn’t usually top priority. In fact, for a lot of women it rates about as appealing as changing another dirty nappy.

Should pregnant women be allowed to use 'parent and child' car parking spots?

Is it acceptable to use these car parking spots when pregnant? How many of us would admit to doing it?

Healthy baby from sperm taken 48 hours after a man died

Fertility doctors have described their "most extraordinary case" - creating a healthy baby from sperm taken 48 hours after a man had died.

Anti-vaccination mum's seven children contract whooping cough

A Canadian woman who had declined to have her children immunised against pertussis, better known as whooping cough, has changed her position now that all seven of her children have come down with the disease.

How pregnancy probiotics can help you and your baby

New research suggests that taking specific pregnancy probiotics could be the answer to a range of common pregnancy side effects.

Childcare is a big problem, but there's more to it

Let’s keep talking about these issues and not allow them to be put into a neat little box that’s labelled ‘Fix childcare and everything is solved’.

Pink's awesome response to body-shaming trolls

When trolls felt the need to comment on 35-year-old singer-songwriter Pink's weight, her answer was an awesome ode to body love.

Fertility clinic offers egg donors $5000

A national chain of fertility clinics is offering egg donors a $5000 payment to cover their expenses, a first for Australia which is raising concerns the money could act as an inducement.

Baby boy abandoned in India amid fresh surrogacy concerns

Australian officials could do nothing to stop an Australian couple from abandoning their baby son, born through surrogacy in India, after they decided they did not want to bring him to Australia.

Herd immunity and community responsibility: how free-riders can make kids suffer

Individual choice works for haircuts and handbags, but not for preventing infectious diseases that kill kids.

Photographer captures 'unexpected beauty' of birth

If there is one thing Leilani Rogers knows about childbirth, it is that no two deliveries are ever the same.

Expectations vs the reality of making a toddler's clothes

Note to self: less sewing, more life. Not the party dress, but the party. The toddler, as usual, has it all figured out.

Mum meets 'dead' daughter 49 years after birth

In 1965, Zella Jackson-Price was told her premature baby girl had died shortly after birth.

Sign up to our 30 days of #PlayIQ challenge

Sign up to receive 30 amazing tips and ideas for play with baby during the month of April and submit a picture or tip on our social wall for a chance to win an amazing Fisher-Price prize pack.

 
Advertisement
 
Advertisement
 
 
 

What's hot on EB

Sign up to our 30 days of #PlayIQ challenge

Sign up to receive 30 amazing tips and ideas for play with baby during the month of April and submit a picture or tip on our social wall for a chance to win an amazing Fisher-Price prize pack.

Tips for flying with a baby

Travelling with kids requires a whole other set of skills - ones that I have learned through (sometimes unfortunate) trial and error.

How to stay calm in an emergency

I’m not expecting you to be as calm as you might be right now. What I mean is that if your panic levels are through the roof during a stressful situation, let’s bring them down to just under the ceiling.

Toddler gets 'drunk' after cranberry juice mix-up

A toddler was taken to hospital after a waitress served her sangria instead of cranberry juice at a US restaurant.

Show us your toddlers LEGO DUPLO creations

We love to see the cool creations kids build when they play with LEGO DUPLO. Enter and share a picture of your childs creation for a chance to WIN 1 of 10 LEGO DUPLO prize packs worth over $100 each.

We need to stop using this word when we talk about childbirth

Is it shaming to point out that women are often being let down in birth?

The certificate helping parents deal with pregnancy loss

For some people, this certificate will offer a sense of validation that their child was acknowledged as being here and now gone, and will help them with life post-loss.

The phenomenon of phantom pregnancy kicks

'Phantom pregnancy kicks’ are encountered by many mums months - or even years - after their pregnancy is over.

The health insurance advice you can't afford to ignore

There's one simple switch that could save you hundreds of dollars a year in private health insurance.

4D scans show how smoking affects babies still in the womb

The harmful effects of smoking during pregnancy on unborn babies may be seen in tiny movements in their faces using 4D ultrasound scans, research has found.

The most dangerous toddler food trends

Pete Evans' paleo cookbook for kids caused a storm, but there are plenty of other unsafe food trends for babies and toddlers.

Infection killed new mum of twins

Modern medicine could not save 19-year-old Sophie Burgess who died 48 hours after giving birth to twins in the UK.

How to babyproof your job interview

Once upon a time, I was a fan of job interviews. That all changed after I'd switched careers, had a baby and decided to spend the first year at home with her.

Grieving families give warnings after toddler deaths

Two Queensland families are grieving the loss of their toddler sons after the boys drowned in separate incidents last week.

Man faces jail after giving woman abortion pill smoothie

A Norwegian man is facing jail after putting abortion pills in his ex-girlfriend's smoothie, causing her to have a miscarriage.

'He's a blessing': family of baby born without eyes

Jordy Jackson was born without eyes. He has anophthalmia, which affects one in every 100,000 babies born.

Super fit model Sarah Stage defends her pregnancy body

Model Sarah Stage has defended her pregnancy body after critics claimed her slim figure at eight-and-a-half months pregnant wasn't "normal".

Why I post breastfeeding photos online

I love to take pictures of my children. In some of the pictures, my younger son is nursing.

The day I broke my baby

There are things I wish I didn't know. I wish I didn't know that companies make tiny braces, small enough to hold necks no bigger than a wrist.

Geeky baby gear

If your family is more into Star Wars, gaming and the periodic table than most, you might want to check out these geek-chic baby items.

Grandbabies: the babies born looking old

Not a day under 65 and a lifetime of struggle! That's the look of these newborns, who look adorably older than their real age. Social networking site Reddit recently featured user submissions of adorable grandbabies, here are our favourites.

53 creative pregnancy announcements

Announcing that you're expecting can be a time to express your creativity, sense of humour and imagination. Check out how other parents and parents-to-be have broken the news to friends and family.

IKEA hacks for the nursery and kids' rooms

Are you one of those that know the whole IKEA catalogue by heart? Love their stuff but want to personalise it? Here's some inspiration to help you realise the potential of IKEA furniture and fittings.

36 baby names inspired by food and drinks

A French court may have ruled out Nutella as a baby name, but that doesn't have to stop you from taking inspiration from the supermarket (or bottle shop). See what parents in the US have chosen for their delicious little ones.

Clever breastfeeding products

Check out this range of products designed to help make your breastfeeding journey more enjoyable, manageable and convenient.

 

SIGN UP NOW!

Win a year's worth of toys

Receive a daily email from Essential Baby for just the month of April with great play tips and ideas, then submit your baby at play photos to our Playwall, Instagram or Twitter for your chance to win.

 
Advertisement
 
 
Essential Baby and Essential Kids is the place to find parenting information and parenting support relating to conception, pregnancy, birth, babies, toddlers, kids, maternity, family budgeting, family travel, nutrition and wellbeing, family entertainment, kids entertainment, tips for the family home, child-friendly recipes and parenting. Try our pregnancy due date calculator to determine your due date, or our ovulation calculator to predict ovulation and your fertile period. Our pregnancy week by week guide shows your baby's stages of development. Access our very active mum's discussion groups in the Essential Baby forums or the Essential Kids forums to talk to mums about conception, pregnancy, birth, babies, toddlers, kids and parenting lifestyle. Essential Baby also offers a baby names database of more than 22,000 baby names, popular baby names, boys' names, girls' names and baby names advice in our baby names forum. Essential Kids features a range of free printable worksheets for kids from preschool years through to primary school years. For the latest baby clothes, maternity clothes, maternity accessories, toddler products, kids toys and kids clothing, breastfeeding and other parenting resources, check out Essential Baby and Essential Kids.